NPM1 nucleophosmin 1
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 16 |
| Likely pathogenic | 0 | 8 |
| Benign | 0 | 36 |
| Likely benign | 0 | 14 |
| not provided | 24 | 6 |
| Uncertain significance | 1 | 32 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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6 |
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46 |
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50 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | B23 |
| SYNONYM | NPM |
| MIM | 164040 OMIM |
| HGNC | HGNC:7910 HGNC |
| Ensembl | ENSG00000181163 Ensembl |
| AllianceGenome | HGNC:7910 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000679190.1 | hg38 | chr5 | 171,387,818 | 171,410,887 | 23,070 |
| ENST00000677325.1 | hg38 | chr5 | 171,388,612 | 171,411,810 | 23,199 |
| ENST00000679233.1 | hg38 | chr5 | 171,387,843 | 171,406,736 | 18,894 |
| ENST00000393820.2 | hg38 | chr5 | 171,387,851 | 171,407,125 | 19,275 |
| ENST00000677357.1 | hg38 | chr5 | 171,387,843 | 171,410,887 | 23,045 |
| ENST00000677297.1 | hg38 | chr5 | 171,387,757 | 171,410,884 | 23,128 |
| ENST00000517671.5 | hg38 | chr5 | 171,387,116 | 171,410,883 | 23,768 |
| ENST00000296930.10 | hg38 | chr5 | 171,387,849 | 171,410,900 | 23,052 |
| ENST00000676589.1 | hg38 | chr5 | 171,387,831 | 171,410,813 | 22,983 |
| ENST00000677907.1 | hg38 | chr5 | 171,388,636 | 171,410,998 | 22,363 |
| ENST00000521672.6 | hg38 | chr5 | 171,387,799 | 171,410,873 | 23,075 |
| ENST00000351986.10 | hg38 | chr5 | 171,387,829 | 171,410,884 | 23,056 |
| ENST00000517671.5 | hg19 | chr5 | 170,814,120 | 170,837,887 | 23,768 |
| ENST00000296930.10 | hg19 | chr5 | 170,814,853 | 170,837,904 | 23,052 |
| ENST00000393820.2 | hg19 | chr5 | 170,814,855 | 170,834,129 | 19,275 |
| ENST00000521672.6 | hg19 | chr5 | 170,814,803 | 170,837,877 | 23,075 |
| ENST00000351986.10 | hg19 | chr5 | 170,814,833 | 170,837,888 | 23,056 |
| ENST00000677325.1 | hg19 | chr5 | 170,815,616 | 170,838,814 | 23,199 |
| ENST00000677907.1 | hg19 | chr5 | 170,815,640 | 170,838,002 | 22,363 |
| ENST00000676589.1 | hg19 | chr5 | 170,814,835 | 170,837,817 | 22,983 |
| ENST00000677297.1 | hg19 | chr5 | 170,814,761 | 170,837,888 | 23,128 |
| ENST00000677357.1 | hg19 | chr5 | 170,814,847 | 170,837,891 | 23,045 |
| ENST00000679190.1 | hg19 | chr5 | 170,814,822 | 170,837,891 | 23,070 |
| ENST00000679233.1 | hg19 | chr5 | 170,814,847 | 170,833,740 | 18,894 |
| Key | Value |
|---|---|
| strand | + |
| UniProt | OG |
| start | 170,814,707 |
| Vogelstein | TSG |
| Gene Symbol | NPM1 |
| Entrez GeneId | 4,869 |
| Chr Band | 5q35 |
| end | 170,837,887 |
| chr | chr5 |
| Name | nucleophosmin (nucleolar phosphoprotein B23, numatrin) |
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